Rare Disease Day: Patient Advocates As Architects


This is a guest post by Nicole Boice, Founder & CEO, Global Genes.

Architects?  Yes Architects.

The role of the patient/patient advocate is rapidly evolving when it comes to their engagement in rare disease.  Patients/advocates have become important drivers in everything from family medical coordination, community coordination, non-profit development, the organization of patient data, disease investigators, disease experts, science conveners, science funders and investors, industry partners and more recently early stage biotech investors and executives.  In order to drive progress, rare disease patients have had to become the architects of their desired future.  And thank goodness they have.

Rare Disease is not so rare.

The statistics in rare disease are staggering; 1 in 10 Americans are affected by one of the 7,000 rare diseases impacting over 350 million people globally.  And with less than 30% of this global community having any type of coordinated effort, there are millions of individuals and their families that are going unsupported.  With less than 7% of these diseases having a treatment, It became clear that patients needed to take action and become drivers and architects of their future.  Progress as we see it today, would not be accelerating at the pace that it has over the last 5 years without this important change.  Patient Advocates have helped drive critical legislation that supports research in rare disease, and as a result, we are seeing more committed industry partners working to address the overwhelming needs in support of rare disease patients and their families.

Patients as Partners

The benefits of this early engagement has created game changing partnerships and win-win scenarios in driving progress in rare disease in many ways; Industry has benefited from early engagement with patients in designing clinical trials, in clinical trial participation, with drug approvals and designing patient support programs, and all of this engagement results in efficiencies and faster drug approvals.  We say this often, but ‘rare disease is where innovation is happening’!  Early Stage research and biotech’s are starting dialogue early, new ideas and approaches to tackling problems are being led by patient problem solvers, who by default, have to think outside the box.  And all of this momentum and innovation is creating a positive shift and interest in rare disease.

We are in this together – Rare Disease Day

Rare Disease Day is a global day of recognition that helps unite the rare disease family around the world.  It is an important time for the community to come together, to reflect on the forward movement that comes with aligning efforts, with collaborating and from developing meaningful partnerships.  Together we create impact.

Global GenesAllies in Rare Disease, is a global advocacy organization working to help equip Patient Architects with the tools they need to be drivers in advancing efforts for their disease community.  We build tools, resources, develop numerous programs and help facilitate critical connections that support patients on this important journey.

Together, with our biotech/pharma partners, the rare disease patient community and the numerous stakeholders who #careaboutrare, we are bringing critical programs to support the evolving roll that patients are playing today.  We believe that ‘It Takes A Village’, to move mountains in rare disease, and we are continuing to work collaboratively to make this a reality.  Together we can.

On this Rare Disease Day, your support and recognition is not only meaningful, but critical, as we all move forward, working to make a difference in the lives of those patients and families impacted.

INFOGRAPHIC: What is a Rare Disease